Author

Laura A. Crinnion

University of LeedsORCID 0000-0003-4805-5353Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Christopher Mark WatsoniD· 2 shared Alexander T HoiD· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew Rutman· 1 shared Anthony McGuiganiD· 1 shared Carolina Jaramillo OquendoiD· 1 shared Christopher A. OdhamsiD· 1 shared Christopher O’CallaghaniD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christopher Mark WatsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 23, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito…·Diana Baralle

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

2 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedNov 1, 2018

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Serge Bonnefoy, Christopher Mark Watson, Kristin D. Kernohan…·Eamonn G. Sheridan

The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.

72 citationstop 4%

humanexperimental assay

𝕏 PostBluesky